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JAMA Cardiology Clinical Challenge
February 2018

Dyspnea in a Young Man

Author Affiliations
  • 1Division of Cardiology, Department of Medicine, State University of New York, Upstate Medical University, Syracuse
JAMA Cardiol. 2018;3(2):177-178. doi:10.1001/jamacardio.2017.4676

A 26-year-old man presented to our outpatient clinic with worsening dyspnea on exertion and leg swelling. He denied chest pain, orthopnea, and paroxysmal nocturnal dyspnea. The patient reported an incremental decline of daily activities because of progressive muscle weakness. He had no relevant medical history and was taking no medications. He denied smoking, drugs, or alcohol abuse. Family history was significant for early death of his maternal uncle who had congestive heart failure. His younger brother also had progressive weakness but no dyspnea. Physical examination was significant for normal heart sounds with bilateral basal rales on lung auscultation and swollen lower extremities with trace edema. Bloodwork revealed a mildly elevated alanine aminotransferase level of 77 U/L (normal level, <41 U/L; to convert to microkatals per liter, multiply by 0.0167) and aspartate aminotransferase level of 47 U/L (normal level, <38 U/L; to convert to microkatals per liter, multiply by 0.0167). Cardiac profile showed normal troponin-I levels, mildly elevated brain-type natriuretic peptide level of 142 pg/mL (normal level, <125 pg/mL; to convert to nanograms per liter, multipy by 1), and elevated serum creatine kinase level of 666 U/L (normal level, 20-200 U/L; to convert to microkatals per liter, multiply by 0.0167) and creatine kinase–MB fraction level of 10 ng/mL (normal level, <6.7 ng/mL; to convert to micrograms per liter, multiply by 1). Electrocardiogram (ECG) on presentation is shown in Figure 1, which has not changed compared with an ECG a year before presentation. Echocardiography showed global hypokinesia with a left ventricular ejection fraction (LVEF) of 35%. The right ventricle was moderately dilated with impaired systolic function.

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